2021
The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system
Narayanan P, Nair S, Balwani M, Malinis M, Mistry P. The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system. Molecular Genetics And Metabolism 2021, 135: 115-121. PMID: 34412940, PMCID: PMC8361210, DOI: 10.1016/j.ymgme.2021.08.004.Peer-Reviewed Case Reports and Technical NotesConceptsSARS-CoV-2 infectionType 1 Gaucher diseaseSARS-CoV-2Gaucher diseaseRare diseaseCOVID-19Immune system dysfunctionRare disease populationMedian agePediatric patientsCase seriesFemale patientsAdverse outcomesClinical spectrumIntensive careGD patientsSystem dysfunctionRetrospective analysisDisease populationHigh riskGeneral populationPatientsImmune systemDiseaseSimilar frequency
2018
Hepatocellular carcinoma in Gaucher disease: an international case series
Regenboog M, van Dussen L, Verheij J, Weinreb NJ, Santosa D, vom Dahl S, Häussinger D, Müller MN, Canbay A, Rigoldi M, Piperno A, Dinur T, Zimran A, Mistry PK, Salah KY, Belmatoug N, Kuter DJ, Hollak CEM. Hepatocellular carcinoma in Gaucher disease: an international case series. Journal Of Inherited Metabolic Disease 2018, 41: 819-827. PMID: 29423829, PMCID: PMC6133179, DOI: 10.1007/s10545-018-0142-y.Peer-Reviewed Original ResearchConceptsHepatocellular carcinomaCase seriesGD patientsIron overloadChronic hepatitis C infectionGaucher diseaseDevelopment of HCCLiver-specific complicationsHepatitis C infectionInternational case seriesDifferent referral centersMain risk factorsType 1 patientsGD type 1 patientsGD pathogenesisC infectionPrior splenectomyReferral centerLiver cirrhosisHistopathological examinationTransferrin saturationHCC riskLiver fibrosisRisk factorsHCC development
2016
Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population
Murugesan V, Lischuk A, Haims A, Lackman R, Brooks JS, Mankin H, Mistry PK. Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population. American Journal Of Hematology 2016, 91: 736-741. PMID: 27102845, DOI: 10.1002/ajh.24398.Peer-Reviewed Original Research